Personal Stories

I have been reluctant to write my story and post it onto the SBMA UK Website, as I didn’t want SBMA UK to be a Web site all about me. Now the site has been live for a month and a half, I feel its now right to put something onto it about myself, so that people know where I am coming from.

I had a normal childhood up until the age of 11. At 11 I had an operation called a partial double Mastectomy this was not a success; and later when I was 13 I had a full double Mastectomy. I didn’t know then but this medical history would help the specialist diagnose SBMA later on, when I was 27.

I left school and worked in mainly manual jobs, first as a Butcher and later as a Postman. I had general muscle weakness from my late teens but put it down to not being naturally athletic. I also suffered from severe cramps in my legs, which were sporadic and occurred for no apparent reason.

It all came to a head in 1995-6, I had been a Postman for 6yrs and was finding it increasingly hard when I was out and about on my round, and I kept falling and tripping up. At home I was struggling to get up stairs and out of the bath. I put it down to working too hard, so I went onto light duties in the sorting office. This didn’t improve matters as I struggled to manually sort letters into the sorting frames. I was having more and more time off due to bouts of cold and flu, and I was eventually asked to go and see the welfare officer. He advised that I go and see my GP.

I remember that eventful day when I went to see my GP. In the consultation room I got down into a squat and said "Look I can’t get back up from this position, I’m 26, I should be able to, what’s wrong with me."

My GP was brilliant and instigated all manner of tests at my local hospital. I saw a Neurologist and I spent a week in Walton Neurological Centre in Liverpool. There I had a muscle biopsy and lumbar puncture, numerous scans and endless blood samples were taken. I was a matter of amusement for visiting students, one by one, they all tried to get a reflex out of my legs. The doctor seemed to know why the students were bemused, and they all went off discussing my case, not saying a word. I left Walton in a right mess, the lumbar puncture caused me great distress.

A month later I was called back to Walton to receive my results. The specialist sat behind his desk and told me that I had Spinal Muscular Atrophy, there was no cure and there was nothing else that they could do. That was it, cold as you like, I don’t doubt that this man was a brilliant doctor and a specialist in his field, but his people skills needed some work. I left feeing numb with a load of unanswered questions.

Later in the year, my specialist sent me for a genetic test. Soon after that, I was made aware that this had come about because he had picked up in my medical notes that I had, had a double Mastectomy when I was eleven & thirteen. I was positively diagnosed a month after the test. This too was confusing, as the implication of this diagnosis was that my daughter would be a carrier of this faulty gene and that my son was not going to be affected or a carrier. At this time Jake was 6 and Leohna was 8, yet more questions but no answers.

I took medical retirement from the Post Office and for the first 18months I think I was numb. There were implications both physically and sexually and this was very frustrating, I had nobody to speak to regarding advice and I didn’t know anybody else who was in a similar situation. My GP was great and he listened to me, but he didn’t have all the answers. I felt my specialist was very unhelpful and he made me feel terrible. At that time I was seeing him every six months and each time he would basically say, "Still no cure, there is nothing we can do, you just have to get on with it."

Since medically retiring I have worked for various charities dealing with information and advice. I went back to college and brushed up my math and English and completed a course in counseling. I have retrained myself so that I now feel confident using a computer. For the past 2 years I have been a Parish Councillor in my village and for the last twelve months I have been working with local charities and non-profit organizations designing web sites.

The main areas affected are my legs, neck and shoulders, with occasional cramps in my throat and neck. My swallowing is only affected when I have over done things. On a day-to-day basis I rely on a manual wheelchair around the house and an electric wheelchair when I’m out and about. I have hand controls fitted on a Vauxhall Astra Estate and a hoist fitted in the boot that stows my electric wheelchair in the car. I do have regular aches and pains in my neck and shoulders and lower back, which is very debilitating. I have my ups and downs like everybody else and I think my symptoms are worse in the winter due to the cold and damp conditions here in the UK. I try to do as much as I can when I can, Amanda my wife often tells me off for over doing things, but it’s sometimes hard as I feel the goal posts keep moving.

I would like to take this opportunity to thank my wife Amanda and my two children Jake & Leohna for their support and encouragement they are a real blessing to me; without them, I fear I would not be where I am today.